1. Gene
  2. TIMM8B - translocase of inner mitochondrial membrane 8 homolog B Gene

TIMM8B - translocase of inner mitochondrial membrane 8 homolog B Gene

Homo sapiens

Also known as DDP2; TIM8B

Gene ID: 26521 | Gene type: protein coding

About TIMM8B

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,084,800-112,086,756 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 16.7), colon (RPKM 15.7) and 25 other tissues.

Summary

This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to Succinate Dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]

TIMM8B Products(1)

mRNA Protein Name
NM_012459.4 NP_036591.3 mitochondrial import inner membrane translocase subunit Tim8 B

TIMM8B Protein Structure

zf-Tim10_DDP

zf-Tim10_DDP: Tim10/DDP family zinc finger (13 - 76)

  • 0
  • 83 a.a.
Protein Preferred Names Protein Names

mitochondrial import inner membrane translocase subunit Tim8 B

DDP-like protein

Related Diseases

Diseases Alias
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

Jensen Syndrome

Deafness Dystonia Syndrome

MTS

Dds

Deafness-Dystonia-Optic Atrophy Syndrome

Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency

Opticoacoustic Nerve Atrophy With Dementia

Dystonia-Deafness Syndrome

Ddp

Ddon Syndrome

Mohr-Tranebjærg Syndrome

Deafness Dystonia Optic Atrophy Syndrome

Deafness Dystonia Optic Neuronopathy Syndrome

Dystonia Deafness Syndrome

Ddon

Deafness - Dystonia - Optic Neuronopathy Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

Hearing Loss-Dystonia-Optic Neuronopathy Syndrome

Dfn-1

X-Linked Progressive Deafness Type 1

Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus TIMM8B VGNC VGNC:66191
Mus musculus TIMM8B MGD MGI:1353424
Bos taurus TIMM8B VGNC VGNC:54899
Rattus norvegicus TIMM8B RGD RGD:619840
Canis familiaris TIMM8B VGNC VGNC:49624